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Gene Review

RSS  -  Russell Silver syndrome

Homo sapiens

Synonyms: SRS
 
 
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Disease relevance of RSS

  • The chemical mechanism of hairpin opening by RAGs resembles RSS cleavage and 3' end processing by HIV integrase and Mu transposase in that these reactions can proceed through alcoholysis [1].
  • Owing to its location in 7p11.2-p12, GRB10 has been considered a candidate gene for the imprinted growth disorder, the Silver-Russell syndrome (SRS), but its predominantly biallelic expression argues against involvement in the syndrome [2].
  • We report a proximal 7p interstitial inverted duplication in a mother and daughter both of whom have features of SRS, including marked short stature, low birth weight, facial asymmetry and 5th finger clinodactyly [3].
  • We report a case of IUGR in a newborn with SRS stigmata [4].
  • Examples of classic human disorders related to genomic imprinting are Beckwith-Wiedemann syndrome (chromosome 11), Prader-Willi/Angelman syndromes (chromosome 15), Russell-Silver syndrome (chromosome 7), and Albright hereditary osteodystrophy (chromosome 20) [5].
  • Among RSS patients, prominent forehead, relative macrocephaly, body asymmetry, and low BMI were significantly associated with ICR1 LOM [6].
 

Psychiatry related information on RSS

  • However, 8q12 still remains as one potential locus for a gene whose mutations may cause the clinical findings of SRS and which could be included in a larger deletion in a proband who has additional mild mental retardation [7].
  • We examined the psychometric properties of the Self-Regulation Scale (SRS; Schwarzer, Diehl, & Schmitz, 1999), a measure of attention control in goal pursuit, in 2 independent studies [8].
  • We found support for the criterion validity of the SRS in terms of positive correlations with measures of general and domain-specific self-efficacy, proactive coping, and positive affect and in terms of negative correlations with depressive symptoms and negative affect [8].
 

High impact information on RSS

  • Mutations in either RAG1 or RAG2 that interfere with RSS cleavage also interfere with hairpin opening, suggesting that RAGs have a single active site that catalyzes several distinct DNA cleavage reactions [1].
  • We characterize 13 patients with DVD--5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS) [9].
  • Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype [10].
  • To date, three imprinted genes-PEG1/MEST, gamma2-COP, and GRB10-have been identified on chromosome 7, but their role in the etiology of SRS remains uncertain [11].
  • Intermediates in V(D)J recombination: a stable RAG1/2 complex sequesters cleaved RSS ends [12].
 

Chemical compound and disease context of RSS

  • While emphasizing the need for a high index of diagnostic suspicion for congenital malformations and syndromic causes of IUGR in the African sub-region, we suspect a possible etiologic association of haloperidol embryopathy with RSS in the current case [13].
  • Their source was: (1) carious material from advanced root lesions (ARL), (2) plaque from sound root surfaces of root-caries-free subjects (SRS), (3) plaque from "white spot" coronal lesions and sound coronal surfaces of caries-active subjects, and (4) plaque from sound coronal surfaces of caries-free subjects [14].
  • Human slow-reacting substance of anaphylaxis (SRS-A) and calcium ionophore-induced human SRS released prostaglandin-like substances and rabbit aorta contracting substance (RCS) from guinea-pig lungs [15].
  • The objective of this study was to evaluate the efficacy of Norian skeletal repair system (SRS), a novel biodegradable and injectable form of calcium phosphate cement with a composition similar to that of cancellous bone, as a carrier for moxifloxacin, which is the most potent quinolone agent against staphylococci and Enterobacteriaceae [16].
 

Biological context of RSS

 

Anatomical context of RSS

  • Recent experiments using artificial recombination substrates in cultured cells have shown that efficient cleavage requires a pair of RSS, one with a 12 nucleotide spacer and one with a 23 nucleotide spacer [20].
  • In the lymphocytes of SRS patients, no aberrant expression patterns of two splice variants (alpha and beta) of PEG1/MEST were detected when they were compared with normal samples [21].
  • CONCLUSIONS: We conclude that the rapid growth acceleration to GH treatment does not alter the lower limb asymmetry in children with RSS [22].
  • Placental anomalies (velamentous cord insertion, single umbilical artery, placental hypotrophy) for the small-for-date twins and a twin-twin transfusion syndrome confirmed at 21 weeks of amenorrhea suggest that early hemodynamic disorders may reveal or trigger RSS which has been considered to be of genetic origin [23].
  • CASE: The diagnosis of RSS in the proband was suspected prenatally because trisomy 7 mosaicism (47,XX,+7[13]/46,XX[19]) and maternal uniparental heterodisomy 7 were both found in amniotic fluid cells [24].
 

Associations of RSS with chemical compounds

  • STUDY DESIGN: Twenty-four children with RSS under the age of 4 years, who had either clinical symptoms of hypoglycaemia or previous evidence of biochemically documented hypoglycaemia, were admitted to hospital for 48 hours to perform a 24-h cortisol/glucose profile and a diagnostic fast in those who did not develop spontaneous hypoglycaemia [25].
  • Since the initial report by Silver et al (1953), more than 50 examples of the Russell-Silver syndrome have been reported [26].
  • Although the last-named drugs inhibit other arachidonate metabolic pathways too, conclusive evidence that the metabolites of the lipoxygenase pathway, and leukotrienes in particular, mediate the LAI response was the fact that FPL 55712, a competitive antagonist of SRS, nullified a positive response at levels as low as 10(-13) M [27].
  • No mutations were found in the cysteine-rich region involved in ligand binding (exon 3) or the ATP binding region (exon 16) which could contribute to the SRS phenotype [28].
  • Thus SRS joins histamine and ECF-A as a preformed mediator [29].
 

Regulatory relationships of RSS

  • PEG1/MEST is an imprinted gene on chromosome 7q32 that is expressed only from the paternal allele and is a candidate gene for SRS [21].
 

Other interactions of RSS

 

Analytical, diagnostic and therapeutic context of RSS

References

  1. Hairpin coding end opening is mediated by RAG1 and RAG2 proteins. Besmer, E., Mansilla-Soto, J., Cassard, S., Sawchuk, D.J., Brown, G., Sadofsky, M., Lewis, S.M., Nussenzweig, M.C., Cortes, P. Mol. Cell (1998) [Pubmed]
  2. Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Arnaud, P., Monk, D., Hitchins, M., Gordon, E., Dean, W., Beechey, C.V., Peters, J., Craigen, W., Preece, M., Stanier, P., Moore, G.E., Kelsey, G. Hum. Mol. Genet. (2003) [Pubmed]
  3. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Joyce, C.A., Sharp, A., Walker, J.M., Bullman, H., Temple, I.K. Hum. Genet. (1999) [Pubmed]
  4. Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression. Miozzo, M., Grati, F.R., Bulfamante, G., Rossella, F., Cribiù, M., Radaelli, T., Cassani, B., Persico, T., Cetin, I., Pardi, G., Simoni, G. Placenta (2001) [Pubmed]
  5. Imprinting disorders: non-Mendelian mechanisms affecting growth. Butler, M.G. Journal of pediatric endocrinology & metabolism : JPEM. (2002) [Pubmed]
  6. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. Netchine, I., Rossignol, S., Dufourg, M.N., Azzi, S., Rousseau, A., Perin, L., Houang, M., Steunou, V., Esteva, B., Thibaud, N., Demay, M.C., Danton, F., Petriczko, E., Bertrand, A.M., Heinrichs, C., Carel, J.C., Loeuille, G.A., Pinto, G., Jacquemont, M.L., Gicquel, C., Cabrol, S., Le Bouc, Y. J. Clin. Endocrinol. Metab. (2007) [Pubmed]
  7. An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. Schinzel, A.A., Robinson, W.P., Binkert, F., Fanconi, A. Clin. Dysmorphol. (1994) [Pubmed]
  8. Assessing attention control in goal pursuit: a component of dispositional self-regulation. Diehl, M., Semegon, A.B., Schwarzer, R. Journal of personality assessment. (2006) [Pubmed]
  9. Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia. Feuk, L., Kalervo, A., Lipsanen-Nyman, M., Skaug, J., Nakabayashi, K., Finucane, B., Hartung, D., Innes, M., Kerem, B., Nowaczyk, M.J., Rivlin, J., Roberts, W., Senman, L., Summers, A., Szatmari, P., Wong, V., Vincent, J.B., Zeesman, S., Osborne, L.R., Cardy, J.O., Kere, J., Scherer, S.W., Hannula-Jouppi, K. Am. J. Hum. Genet. (2006) [Pubmed]
  10. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Bliek, J., Terhal, P., van den Bogaard, M.J., Maas, S., Hamel, B., Salieb-Beugelaar, G., Simon, M., Letteboer, T., van der Smagt, J., Kroes, H., Mannens, M. Am. J. Hum. Genet. (2006) [Pubmed]
  11. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Hannula, K., Lipsanen-Nyman, M., Kontiokari, T., Kere, J. Am. J. Hum. Genet. (2001) [Pubmed]
  12. Intermediates in V(D)J recombination: a stable RAG1/2 complex sequesters cleaved RSS ends. Jones, J.M., Gellert, M. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  13. Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation. Johnson, A.W., Mokuolu, O.A. Journal of the National Medical Association. (2001) [Pubmed]
  14. The final pH of bacteria comprising the predominant flora on sound and carious human root and enamel surfaces. van Houte, J., Lopman, J., Kent, R. J. Dent. Res. (1996) [Pubmed]
  15. Stimulation of arachidonic acid metabolism by human slow-reacting substances. Seale, J.P., Piper, P.J. Eur. J. Pharmacol. (1978) [Pubmed]
  16. Comparative elution of moxifloxacin from Norian skeletal repair system and acrylic bone cement: an in vitro study. Kanellakopoulou, K., Tsaganos, T., Athanassiou, K., Koutoukas, P., Raftogiannis, M., Skiadas, I., Giamarellou, H. Int. J. Antimicrob. Agents (2006) [Pubmed]
  17. Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Nakabayashi, K., Bentley, L., Hitchins, M.P., Mitsuya, K., Meguro, M., Minagawa, S., Bamforth, J.S., Stanier, P., Preece, M., Weksberg, R., Oshimura, M., Moore, G.E., Scherer, S.W. Hum. Mol. Genet. (2002) [Pubmed]
  18. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Yoshihashi, H., Maeyama, K., Kosaki, R., Ogata, T., Tsukahara, M., Goto, Y., Hata, J., Matsuo, N., Smith, R.J., Kosaki, K. Am. J. Hum. Genet. (2000) [Pubmed]
  19. Target DNA Structure Plays a Critical Role in RAG Transposition. Posey, J.E., Pytlos, M.J., Sinden, R.R., Roth, D.B. PLoS Biol. (2006) [Pubmed]
  20. Mechanism of V(D)J recombination. Zhu, C., Roth, D.B. Cancer Surv. (1996) [Pubmed]
  21. No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. Kobayashi, S., Uemura, H., Kohda, T., Nagai, T., Chinen, Y., Naritomi, K., Kinoshita, E.I., Ohashi, H., Imaizumi, K., Tsukahara, M., Sugio, Y., Tonoki, H., Kishino, T., Tanaka, T., Yamada, M., Tsutsumi, O., Niikawa, N., Kaneko-Ishino, T., Ishino, F. Am. J. Med. Genet. (2001) [Pubmed]
  22. Growth hormone treatment does not alter lower limb asymmetry in children with Russell-Silver syndrome. Rizzo, V., Traggiai, C., Stanhope, R. Horm. Res. (2001) [Pubmed]
  23. Russell-Silver syndrome: an explanation for discordant growth in monozygotic twins. Sagot, P., David, A., Talmant, C., Pascal, O., Winer, N., Boog, G. Fetal. Diagn. Ther. (1996) [Pubmed]
  24. Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Font-Montgomery, E., Stone, K.M., Weaver, D.D., Vance, G.H., Das, S., Thurston, V.C. Birth defects research. Part A, Clinical and molecular teratology. (2005) [Pubmed]
  25. Hypoglycaemia and Russell-Silver syndrome. Azcona, C., Stanhope, R. Journal of pediatric endocrinology & metabolism : JPEM. (2005) [Pubmed]
  26. Crossed asymmetry in Russell-Silver syndrome. Qazi, Q.H., Kassner, E.G., Ganapathy, C. J. Med. Genet. (1977) [Pubmed]
  27. Modulation of antigen-induced leukocyte adherence inhibition by metabolites of arachidonic acid and intracellular nucleotides. Thomson, D.M., Phelan, K., Scanzano, R., Fink, A. Int. J. Cancer (1982) [Pubmed]
  28. Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families. Abu-Amero, S., Price, S., Wakeling, E., Stanier, P., Trembath, R., Preece, M.A., Moore, G.E. Eur. J. Hum. Genet. (1997) [Pubmed]
  29. Slow reacting substance as a preformed mediator from human lung. Turnbull, L.S., Jones, D.G., Kay, A.B. Immunology (1976) [Pubmed]
  30. The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain. Kayashima, T., Yamasaki, K., Yamada, T., Sakai, H., Miwa, N., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Kanetake, H., Ishino, F., Niikawa, N., Kishino, T. Hum. Genet. (2003) [Pubmed]
  31. Russell-Silver syndrome: molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping. Chou, Y.Y., Chen, C.C., Kuo, P.L., Tsai, W.H., Lin, S.J. J. Formos. Med. Assoc. (2004) [Pubmed]
  32. X chromosome inactivation patterns in Russell-Silver syndrome patients and their mothers. Beever, C.L., Peñaherrera, M.S., Langlois, S., Robinson, W.R. Am. J. Med. Genet. A (2003) [Pubmed]
  33. Whole body doses from linear accelerator-based stereotactic radiotherapy. Shepherd, S.F., Childs, P.J., Graham, J.D., Warrington, A.P., Brada, M. Int. J. Radiat. Oncol. Biol. Phys. (1997) [Pubmed]
  34. Phase II trial of hypofractionated stereotactic radiotherapy for brain metastases: Results and toxicity. Ernst-Stecken, A., Ganslandt, O., Lambrecht, U., Sauer, R., Grabenbauer, G. Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology. (2006) [Pubmed]
 
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